rs794727108
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ATCTCCAGGCTCCAGC;ATCTCCAGGCTCCAGC) | 0 | common in clinvar |
Make rs794727108(-;-) |
Make rs794727108(-;TCTCCAGGCTCCAGCA) |
Make rs794727108(TCTCCAGGCTCCAGCA;TCTCCAGGCTCCAGCA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 31317568 |
Gene | B3GLCT |
is a | snp |
is | mentioned by |
dbSNP | rs794727108 |
dbSNP (classic) | rs794727108 |
ClinGen | rs794727108 |
ebi | rs794727108 |
HLI | rs794727108 |
Exac | rs794727108 |
Gnomad | rs794727108 |
Varsome | rs794727108 |
LitVar | rs794727108 |
Map | rs794727108 |
PheGenI | rs794727108 |
Biobank | rs794727108 |
1000 genomes | rs794727108 |
hgdp | rs794727108 |
ensembl | rs794727108 |
geneview | rs794727108 |
scholar | rs794727108 |
rs794727108 | |
pharmgkb | rs794727108 |
gwascentral | rs794727108 |
openSNP | rs794727108 |
23andMe | rs794727108 |
SNPshot | rs794727108 |
SNPdbe | rs794727108 |
MSV3d | rs794727108 |
GWAS Ctlg | rs794727108 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727108(-;-) |
Alt | rs794727108(-;-) |
Reference | Rs794727108(ATCTCCAGGCTCCAGC;ATCTCCAGGCTCCAGC) |
Significance | Pathogenic |
Disease | Peters plus syndrome |
Variation | info |
Gene | B3GLCT |
CLNDBN | Peters plus syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.31891705_31891720delTCTCCAGGCTCCAGCA |
CLNSRC | |
CLNACC | RCV000174621.1, |